Varaico: Literature-Extracted Genetic Variants

TFPI

507 papers

RefSeq Summary

This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor...

Pfam Domains

Kunitz_BPTIaa 53–105UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 124–176UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 216–268UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

tissue factor pathway inhibitor

HGNC Previous Symbol

LACI

Papers

RefSeq ID

Protein change

DNA change

1–12 of 196 variants

24 papers

NM_006287.6

p.P179L

c.536C>T

19 papers

NM_006287.6

p.L11L

c.33T>C

10 papers

NM_006287.6

p.F126I

c.376T>A

8 papers

NM_006287.6

p.T40I

c.119C>T

7 papers

NM_006287.6

p.T76I

c.227C>T

7 papers

NM_006287.6

p.V292M

c.874G>A

6 papers

NM_006287.6

p.R152H

c.455G>A

4 papers

NM_006287.6

p.K48I

c.143A>T

3 papers

NM_006287.6

p.M1T

c.2T>C

3 papers

NM_006287.6

p.P25del1

c.73_74delAGG

3 papers

NM_006287.6

p.E80K

c.238G>A

3 papers

NM_006287.6

p.G251V

c.752G>T